List of variants in gene ASL reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.117del (p.Gln40fs)
NM_000048.4(ASL):c.118_119del (p.Gln40fs)
NM_000048.4(ASL):c.143del (p.Gly48fs)
NM_000048.4(ASL):c.243_244del (p.Asn82fs)
NM_000048.4(ASL):c.256G>T (p.Glu86Ter)	rs1786532924
NM_000048.4(ASL):c.371G>A (p.Trp124Ter)	rs1786558070
NM_000048.4(ASL):c.372G>A (p.Trp124Ter)	rs1786558148
NM_000048.4(ASL):c.379C>T (p.Gln127Ter)	rs1786558577
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs)
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)
NM_000048.4(ASL):c.57del (p.Ile20fs)
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs)
NM_000048.4(ASL):c.721G>T (p.Glu241Ter)	rs1786746301
NM_000048.4(ASL):c.736del (p.Ala246fs)
NM_000048.4(ASL):c.814C>T (p.Gln272Ter)	rs1786750679
NM_000048.4(ASL):c.999_1000del (p.Phe333fs)

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